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Table 3 Overview on the 17 patients screened for SLC7A13 mutations

From: No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria

patient ethnic origin age at first stone age at examination number of recurrent stones published in
Cys3 Italian 4 m 12 y 5–10 [9]
Cys4 Italian 1 y 5 y < 5 [9]
Cys21 Italian 23 y none [9]
Cys23 Turkish NA 30 y < 5 [10]
Cys43 German 19 y 51 y > 10 [10]
Cys58 Turkish 6 y 16 y < 5 [14]
Cys63 German 13 m 3 y 5–10 [14]
Cys89 Russian 25 y 30 y < 5 [14]
Cys98 German 3.5 y 5 y < 5 [14]
Cys105 Russian 1.5 y 12 y 5–10 [14]
Cys116 Turkish 1.5 y 11 y 5–10 [12]
Cys128 Turkish 17 y 23 y > 10 [12]
Cys152 German NA NA NA [12]
Cys161 Turkish 1 m 1 m 1 [12]
Cys181 Polish 3 y 9 y > 10 [13]
Cys183 Polish 6 y 6 y 5–10 [13]
M20679 German NA 52 y 1
  1. Mutations in the SLC3A1 and SLC7A9 genes had been excluded before (see texts). The majority of patients was in included in precedent studies. (NA not assessed; y year, m months)